Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.

Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly documented in childhood and comprise variable neurocognitive development, recognizable craniofacial features, a short stature with a pseudo-muscular build, hearing loss, thickened skin, joint limitations, diverse cardiovascular and airway manifestations, and increased fibrosis often following trauma or surgery. In contrast, adults with MS are underreported obscuring potential clinical variability.

Shunt Nephritis: A Case of Mistaken Identity.

Background: Membranoproliferative glomerulonephritis is a histological pattern of glomerular injury due to the deposition of immune complexes and complement factors. It is associated with bacterial and viral infections, auto-immune diseases such as systemic lupus erythematosus and Sjögren's syndrome, monoclonal gammopathy, and complement disorders (dense deposit disease and C3 glomerulopathy).  Case presentation: This is the report of a 25-year-old male with membranoproliferative glomerulonephritis who was initially treated for systemic lupus erythematosus, but who was later diagnosed with nephritis due to a chronic infection of a central nervous system shunt, last revised at the age of 3 years old.

Carbamoylated Nail Proteins as Assessed by Near-Infrared Analysis are Associated with Load of Uremic Toxins and Mortality in Hemodialysis Patients.

Carbamoylation is an important risk factor for accelerated atherogenesis and mortality in patients undergoing hemodialysis (HD). We intended to explore whether carbamoylation as assessed by near-infrared (NIR) analysis of nail proteins is associated with (a) serum concentrations of representative uremic toxins and (b) mortality in HD patients. A total of 53 healthy volunteers and 84 consecutive HD patients were enrolled in this cross-sectional cohort study.

Estimating the Level of Carbamoylated Plasma Non-High-Density Lipoproteins Using Infrared Spectroscopy.

Background: The increased cardiovascular morbidity and mortality observed in chronic kidney disease (CKD) patients can be partly explained by the presence of carbamoylated lipoproteins. Lipid profiles can be determined with infrared spectroscopy. In this paper, the effects of carbamoylation on spectral changes of non-high-density lipoproteins (non-HDL) were studied.

Urinary myeloid IgA Fc alpha receptor (CD89) and transglutaminase-2 as new biomarkers for active IgA nephropathy and henoch-Schönlein purpura nephritis.

Background: IgA nephropathy (IgAN) and Henoch-Schönlein purpura nephritis (HSPN) are glomerular diseases that share a common and central pathogenic mechanism. The formation of immune complexes containing IgA1, myeloid IgA Fc alpha receptor (FcαRI/CD89) and transglutaminase-2 (TG2) is observed in both conditions. Therefore, urinary CD89 and TG2 could be potential biomarkers to identify active IgAN/HSPN.

An abnormally glycosylated isoform of erythropoietin in hemangioblastoma is associated with polycythemia.

Background: Hemangioblastomas express erythropoietin and the patients often present with polycythemia.

Methods: Serum erythropoietin was measured using a commercial immunoassay, a functional erythropoietin assay and iso-electric focusing.

Results: Despite the polycythemia, serum erythropoietin remained low, while a functional erythropoietin-assay showed a 4-5 higher activity in serum compared to the immunoassay.

Soluble transferrin receptor in urine, a new biomarker for IgA nephropathy and Henoch-Schönlein purpura nephritis.

Objectives: IgA nephropathy (IgAN) and Henoch-Schönlein purpura nephritis (HSPN) might represent different ends of a continuous spectrum of glomerular disease. In both conditions, upregulated soluble transferrin receptor (sTfR) might be excreted in urine, which could be a potential biomarker to monitor disease activity and therapeutic response.

Methods: In this pilot study, 132 Caucasian patients consulting the Nephrology Department at the Ghent University Hospital because of a glomerulopathy and 50 normal controls were included.